| umls-concept:C2986630 | skos:definition | NCI: Human SLC3A1 wild-type allele is located in the vicinity of 2p16.3 and is approximately 46 kb in length. This allele, which encodes neutral and basic amino acid transport protein rBAT, plays a role in the regulation of amino acid transport. Mutation of the gene is associated with cystinuria type 1 and hypotonia-cystinuria syndrome. | lld:umls |
